Document Detail

Meckel-Gruber syndrome. A lethal combination of abnormalities.
MedLine Citation:
PMID:  2333699     Owner:  NLM     Status:  MEDLINE    
We herein describe two cases of Meckel-Gruber Syndrome identified in stillborn infants. Both had all three elements of the classical triad, namely, occipital encephalocele, renal cystic dysplasia and post-axial polydactyly. In addition, many of the other well-known accompanying abnormalities were present. Awareness of this entity in this region is important because of its high risk of recurrence in subsequent pregnancies.
K C Coard; C T Escoffery
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The West Indian medical journal     Volume:  39     ISSN:  0043-3144     ISO Abbreviation:  West Indian Med J     Publication Date:  1990 Mar 
Date Detail:
Created Date:  1990-06-06     Completed Date:  1990-06-06     Revised Date:  2008-03-10    
Medline Journal Info:
Nlm Unique ID:  0417410     Medline TA:  West Indian Med J     Country:  JAMAICA    
Other Details:
Languages:  eng     Pagination:  52-6     Citation Subset:  IM    
Department of Pathology, U.W.I., Jamaica.
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MeSH Terms
Diagnosis, Differential
Encephalocele / diagnosis,  genetics*,  pathology
Fetal Death
Fingers / abnormalities*
Genetic Counseling
Infant, Newborn
Polycystic Kidney Diseases / diagnosis,  genetics*,  pathology

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